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Page 1
Paternal germline mosaicism in collagen VI related myopathies.
Armaroli A, Trabanelli C, Scotton C, Venturoli A, Selvatici R, Brisca G, Merlini L, Bruno C, Ferlini A, Gualandi F. Armaroli A, et al. Among authors: selvatici r. Eur J Paediatr Neurol. 2015 Sep;19(5):533-6. doi: 10.1016/j.ejpn.2015.04.002. Epub 2015 Apr 30. Eur J Paediatr Neurol. 2015. PMID: 25978941
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.
Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, Sabatelli P, Selvatici R, D'Amico A, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E, Bertini E, Merlini L, Mongini T, Ferlini A. Brioschi S, et al. Among authors: selvatici r. BMC Med Genet. 2012 Aug 16;13:73. doi: 10.1186/1471-2350-13-73. BMC Med Genet. 2012. PMID: 22894145 Free PMC article.
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report.
Martoni E, Petrini S, Trabanelli C, Sabatelli P, Urciuolo A, Selvatici R, D'Amico A, Falzarano S, Bertini E, Bonaldo P, Ferlini A, Gualandi F. Martoni E, et al. Among authors: selvatici r. BMC Med Genet. 2013 Jun 5;14:59. doi: 10.1186/1471-2350-14-59. BMC Med Genet. 2013. PMID: 23738969 Free PMC article.
Biodistribution and molecular studies on orally administered nanoparticle-AON complexes encapsulated with alginate aiming at inducing dystrophin rescue in mdx mice.
Falzarano MS, Passarelli C, Bassi E, Fabris M, Perrone D, Sabatelli P, Maraldi NM, Donà S, Selvatici R, Bonaldo P, Sparnacci K, Laus M, Braghetta P, Rimessi P, Ferlini A. Falzarano MS, et al. Among authors: selvatici r. Biomed Res Int. 2013;2013:527418. doi: 10.1155/2013/527418. Epub 2013 Dec 12. Biomed Res Int. 2013. PMID: 24392452 Free PMC article.
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.
Schindler RF, Scotton C, Zhang J, Passarelli C, Ortiz-Bonnin B, Simrick S, Schwerte T, Poon KL, Fang M, Rinné S, Froese A, Nikolaev VO, Grunert C, Müller T, Tasca G, Sarathchandra P, Drago F, Dallapiccola B, Rapezzi C, Arbustini E, Di Raimo FR, Neri M, Selvatici R, Gualandi F, Fattori F, Pietrangelo A, Li W, Jiang H, Xu X, Bertini E, Decher N, Wang J, Brand T, Ferlini A. Schindler RF, et al. Among authors: selvatici r. J Clin Invest. 2016 Jan;126(1):239-53. doi: 10.1172/JCI79562. Epub 2015 Dec 7. J Clin Invest. 2016. PMID: 26642364 Free PMC article.
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy.
Scotton C, Bovolenta M, Schwartz E, Falzarano MS, Martoni E, Passarelli C, Armaroli A, Osman H, Rodolico C, Messina S, Pegoraro E, D'Amico A, Bertini E, Gualandi F, Neri M, Selvatici R, Boffi P, Maioli MA, Lochmüller H, Straub V, Bushby K, Castrignanò T, Pesole G, Sabatelli P, Merlini L, Braghetta P, Bonaldo P, Bernardi P, Foley R, Cirak S, Zaharieva I, Muntoni F, Capitanio D, Gelfi C, Kotelnikova E, Yuryev A, Lebowitz M, Zhang X, Hodge BA, Esser KA, Ferlini A. Scotton C, et al. Among authors: selvatici r. J Cell Sci. 2016 Apr 15;129(8):1671-84. doi: 10.1242/jcs.175927. Epub 2016 Mar 4. J Cell Sci. 2016. PMID: 26945058 Free PMC article.
A Family with γ-Thalassemia and High Hb A2 Levels.
Parmeggiani G, Gualandi F, Selvatici R, Rimessi P, Bigoni S, Taddei Masieri M, Dolcini B, Venturoli A, Cappabianca MP, Ferlini A, Ravani A. Parmeggiani G, et al. Among authors: selvatici r. Hemoglobin. 2016 Jun;40(3):187-90. doi: 10.3109/03630269.2016.1148613. Hemoglobin. 2016. PMID: 27117568
92 results